Varaico: Literature-Extracted Genetic Variants

Gene:RPUSD4
Variant:p.A209V

RPUSD4

34 papers

Pfam Domains

PseudoU_synth_2aa 105–277UCSCRNA pseudouridylate synthase

Gene Aliases

HGNC Name

RNA pseudouridine synthase D4

HGNC Alias Symbol

FLJ14494

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032795.3
p.A209V
c.626C>T
Surrounding Variants
1 paper
NM_032795.3
p.E208fs
c.622_623fs
1 paper
NM_032795.3
p.I202L
c.604A>C
1 paper
NM_032795.3
p.K217_M218Splc
c.651+1G>A
1 paper
NM_032795.3
p.K217_M218Splc
c.652-4T>C
2 papers
NM_032795.3
p.P222L
c.665C>T
1 paper
NM_032795.3
p.T245T
c.735T>C
1 paper
NM_032795.3
p.L254F
c.760C>T
1 paper
NM_032795.3
p.V259L
c.775G>T
1 paper
NM_032795.3
p.V259L
c.775G>C
1 paper
NM_032795.3
p.T265I
c.794C>T
1 paper
NM_032795.3
p.W186Splc
c.558-770G>A
3 papers
NM_032795.3
p.R272*
c.814C>T
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